{
    "disease_id": "DOID:0060769",
    "recommended_name": {
        "id": "DOID:0060769",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060769",
        "name": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy",
        "description": "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12."
    },
    "synonyms": [
        {
            "id": "DOID:0060769",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060769",
            "name": "alymphoid cystic thymic dysgenesis",
            "description": ""
        },
        {
            "id": "DOID:0060769",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060769",
            "name": "winged helix deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060769",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060769",
            "name": "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011132",
            "name": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy",
            "description": "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12."
        },
        {
            "id": "MONDO:0011132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011132",
            "name": "FOXN1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011132",
            "name": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011132",
            "name": "alopecia immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011132",
            "name": "alymphoid cystic thymic dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0011132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011132",
            "name": "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011132",
            "name": "winged helix deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011132",
            "name": "Pignata Guarino syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011132",
            "name": "T-cell immunodeficiency, congenital alopecia and nail dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011132",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011132",
            "name": "congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency",
            "description": ""
        },
        {
            "id": "MIM:601705",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601705",
            "name": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy",
            "description": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060769"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060769",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060769",
            "categories": []
        },
        {
            "id": "MONDO:0011132",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011132",
            "categories": []
        },
        {
            "id": "MIM:601705",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601705",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R9K2-1",
            "uniprot_ac": "F1R9K2",
            "uniprot_id": "F1R9K2_DANRE",
            "refseq_ac": "XP_009289890",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein N1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein N1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "foxn1",
                    "type": "recommended"
                },
                {
                    "name": "foxn1",
                    "type": "synonym"
                },
                {
                    "name": "nude",
                    "type": "synonym"
                },
                {
                    "name": "whnb",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R9K2-1",
            "evidence": [
                {
                    "id": "0060769",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060769"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61575-1",
            "uniprot_ac": "Q61575",
            "uniprot_id": "FOXN1_MOUSE",
            "refseq_ac": "NP_032264",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein N1",
                    "type": "recommended"
                },
                {
                    "name": "HFH-11",
                    "type": "synonym"
                },
                {
                    "name": "HNF-3/forkhead homolog 11",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte nuclear factor 3 forkhead homolog 11",
                    "type": "synonym"
                },
                {
                    "name": "Winged-helix transcription factor nude",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein N1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein N1",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 3 forkhead homolog 11",
                    "type": "synonym"
                },
                {
                    "name": "winged-helix transcription factor nude",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxn1",
                    "type": "recommended"
                },
                {
                    "name": "D11Bhm185e",
                    "type": "synonym"
                },
                {
                    "name": "Fkh19",
                    "type": "synonym"
                },
                {
                    "name": "Foxn1",
                    "type": "synonym"
                },
                {
                    "name": "HFH-11",
                    "type": "synonym"
                },
                {
                    "name": "Hfh11",
                    "type": "synonym"
                },
                {
                    "name": "Whn",
                    "type": "synonym"
                },
                {
                    "name": "nude",
                    "type": "synonym"
                },
                {
                    "name": "nu",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61575-1",
            "evidence": [
                {
                    "id": "0060769",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060769"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15353-1",
            "uniprot_ac": "O15353",
            "uniprot_id": "FOXN1_HUMAN",
            "refseq_ac": "NP_003584",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box protein N1",
                    "type": "recommended"
                },
                {
                    "name": "Rowett nude",
                    "type": "synonym"
                },
                {
                    "name": "Winged-helix transcription factor nude",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein N1",
                    "type": "synonym"
                },
                {
                    "name": "winged-helix nude",
                    "type": "synonym"
                },
                {
                    "name": "winged-helix transcription factor nude",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOXN1",
                    "type": "recommended"
                },
                {
                    "name": "FKHL20",
                    "type": "synonym"
                },
                {
                    "name": "FOXN1",
                    "type": "synonym"
                },
                {
                    "name": "RONU",
                    "type": "synonym"
                },
                {
                    "name": "TIDAND",
                    "type": "synonym"
                },
                {
                    "name": "TIDTA",
                    "type": "synonym"
                },
                {
                    "name": "TLIND",
                    "type": "synonym"
                },
                {
                    "name": "WHN",
                    "type": "synonym"
                }
            ],
            "record_id": "O15353-1",
            "evidence": [
                {
                    "id": "601705",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601705"
                },
                {
                    "id": "0060769",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060769"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GMI6-1",
            "uniprot_ac": "A0A8I6GMI6",
            "uniprot_id": "A0A8I6GMI6_RAT",
            "refseq_ac": "NP_001094118",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Forkhead box N1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein N1",
                    "type": "synonym"
                },
                {
                    "name": "winged-helix nude",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Foxn1",
                    "type": "recommended"
                },
                {
                    "name": "Foxn1",
                    "type": "synonym"
                },
                {
                    "name": "RONU",
                    "type": "synonym"
                },
                {
                    "name": "Rnu",
                    "type": "synonym"
                },
                {
                    "name": "Whn",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GMI6-1",
            "evidence": [
                {
                    "id": "0060769",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060769"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XTP7-1",
            "uniprot_ac": "Q9XTP7",
            "uniprot_id": "Q9XTP7_DROME",
            "refseq_ac": "NP_524302",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4029-PA",
                    "type": "synonym"
                },
                {
                    "name": "Jumeau",
                    "type": "synonym"
                },
                {
                    "name": "domina",
                    "type": "synonym"
                },
                {
                    "name": "jumeaux",
                    "type": "synonym"
                },
                {
                    "name": "jumeau",
                    "type": "synonym"
                },
                {
                    "name": "jumu-PA",
                    "type": "synonym"
                },
                {
                    "name": "winged-helix nude-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "jumu",
                    "type": "recommended"
                },
                {
                    "name": "5295",
                    "type": "synonym"
                },
                {
                    "name": "CG4029",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4029",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4029",
                    "type": "synonym"
                },
                {
                    "name": "Dmjumu",
                    "type": "synonym"
                },
                {
                    "name": "Dom",
                    "type": "synonym"
                },
                {
                    "name": "Dwhn",
                    "type": "synonym"
                },
                {
                    "name": "E(var)631",
                    "type": "synonym"
                },
                {
                    "name": "FoxN14",
                    "type": "synonym"
                },
                {
                    "name": "Jumeau",
                    "type": "synonym"
                },
                {
                    "name": "Jumu",
                    "type": "synonym"
                },
                {
                    "name": "Scim31",
                    "type": "synonym"
                },
                {
                    "name": "Whn",
                    "type": "synonym"
                },
                {
                    "name": "jumeaux",
                    "type": "synonym"
                },
                {
                    "name": "jumu/Dom",
                    "type": "synonym"
                },
                {
                    "name": "jumu",
                    "type": "synonym"
                },
                {
                    "name": "l(3)06142",
                    "type": "synonym"
                },
                {
                    "name": "l(3)06439",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XTP7-1",
            "evidence": [
                {
                    "id": "0060769",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060769"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060769"
}